UGT2A2
Chr 4UDP glucuronosyltransferase family 2 member A2
Also known as: UDPGT 2A2
The encoded UDP-glucuronosyltransferase catalyzes the conjugation of lipophilic substrates with glucuronic acid to facilitate their excretion, playing a key role in detoxification of drugs, xenobiotics, and endogenous compounds including estradiol and bile acids. The gene is not constrained against loss-of-function variants, and polymorphisms have been associated with loss of taste and smell during SARS-CoV-2 infection, but established Mendelian disease associations in pediatric populations are not well-documented.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
86 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 21 | 0 | 21 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 39 | 11 | 0 | 50 |
Likely Benign | 1 | 3 | 4 | 2 | 10 |
Benign | 0 | 0 | 1 | 1 | 2 |
| Total | 1 | 42 | 38 | 3 | 84 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
UGT2A2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools